文章旨在建立一种奶山羊无角间性综合征(Polled intersex syndrome,PIS)遗传缺陷基因检测方法。根据PIS基因序列(AF404302)分别设计PIS-、PIS+、NEI 3对扩增引物, 利用PCR技术鉴定奶山羊PIS遗传缺陷基因型。基因型为PIS- PIS+与PIS-PIS+ 的表型正常个体分别扩增出(141, 300 bp)和(141, 449, 300 bp)的片段组合, 隐性纯合间性山羊(PIS+PIS+)扩增出(449, 300 bp)的片段组合。利用该方法检测一个224个体的奶山羊群体, 结果显示：PIS -PIS-、PIS-PIS+ 和PIS +PIS+个体分别为70、150和4个。该群体中PIS -PIS+基因型频率高达66.9%, PIS+基因频率为35.3%, 其子代群体出现间性山羊的可能性将超过12%。文章所开发的奶山羊PIS遗传缺陷基因检测方法可直接准确判别种公羊的基因型, 从而避免缺陷基因携带者种公羊的使用。该方法易操作且准确性高, 对奶山羊的标记辅助选择及奶山羊产业的健康发展具有重要意义。
The purpose of this study was to develop a molecular method for detecting polled intersex syndrome (PIS) genetic deficiency gene in dairy goat. Three pairs of primers, PIS-, PIS+, and NEI were designed based on PIS gene sequence (AF404302) to identify the PIS genetic deficiency genotype. For the normal phenotype, the fragments of 141 and 300 bp were obtained for the genotype PIS-PIS-, and 141, 449, and 300 bp for the genotype PIS-PIS+. For the PIS goat with the genotype PIS+PIS+, 449 and 300 bp were obtained. Two hundred and twenty-four dairy goats in one population were tested based on this method. The results showed that there were 150 PIS-PIS+, 70 PIS-PIS-, and 4 PIS+PIS+. The genotype frequency of PIS-PIS+ was 66.9%, and the gene frequency of PIS+ was 35.3% in the population. Therefore, the frequency of PIS offspring was over 12%. This study developed a method to detect PIS genetic deficiency dairy goat. The method could identify buck genotype accurately to avoid the occur-rence of PIS genetic deficiency. The ease and accuracy show a strong potential of the method for use in marker assisted selection of dairy goats and healthy development of dairy goat industry.
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